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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.


Current Build 155

Released April 9, 2021

Homo sapiens
chr8:42731835 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Variation Type
SNV Single Nucleotide Variation
C=0.000363 (96/264690, TOPMED)
C=0.000239 (60/251436, GnomAD_exome)
C=0.000385 (54/140162, GnomAD) (+ 8 more)
C=0.000148 (18/121252, ExAC)
C=0.00029 (23/78700, PAGE_STUDY)
C=0.00016 (6/36462, ALFA)
C=0.00015 (2/13006, GO-ESP)
C=0.0008 (4/5008, 1000G)
C=0.0003 (1/3854, ALSPAC)
C=0.0003 (1/3708, TWINSUK)
C=0.005 (3/616, Vietnamese)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CHRNB3 : Synonymous Variant
0 citations
Genomic View
See rs on genome

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p13 chr 8 NC_000008.11:g.42731835T>C
GRCh37.p13 chr 8 NC_000008.10:g.42586978T>C
Gene: CHRNB3, cholinergic receptor nicotinic beta 3 subunit (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CHRNB3 transcript variant 1 NM_000749.5:c.528T>C Y [TAT] > Y [TAC] Coding Sequence Variant
neuronal acetylcholine receptor subunit beta-3 isoform 1 precursor NP_000740.1:p.Tyr176= Y (Tyr) > Y (Tyr) Synonymous Variant
CHRNB3 transcript variant 2 NM_001347717.2:c.306T>C Y [TAT] > Y [TAC] Coding Sequence Variant
neuronal acetylcholine receptor subunit beta-3 isoform 2 NP_001334646.1:p.Tyr102= Y (Tyr) > Y (Tyr) Synonymous Variant
CHRNB3 transcript variant X1 XM_011544390.2:c.141T>C Y [TAT] > Y [TAC] Coding Sequence Variant
neuronal acetylcholine receptor subunit beta-3 isoform X1 XP_011542692.1:p.Tyr47= Y (Tyr) > Y (Tyr) Synonymous Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 36462 T=0.99984 C=0.00016
European Sub 26800 T=0.99981 C=0.00019
African Sub 3400 T=1.0000 C=0.0000
African Others Sub 114 T=1.000 C=0.000
African American Sub 3286 T=1.0000 C=0.0000
Asian Sub 146 T=1.000 C=0.000
East Asian Sub 120 T=1.000 C=0.000
Other Asian Sub 26 T=1.00 C=0.00
Latin American 1 Sub 500 T=1.000 C=0.000
Latin American 2 Sub 628 T=1.000 C=0.000
South Asian Sub 104 T=1.000 C=0.000
Other Sub 4884 T=0.9998 C=0.0002


Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.999637 C=0.000363
gnomAD - Exomes Global Study-wide 251436 T=0.999761 C=0.000239
gnomAD - Exomes European Sub 135376 T=0.999911 C=0.000089
gnomAD - Exomes Asian Sub 49008 T=0.99998 C=0.00002
gnomAD - Exomes American Sub 34588 T=0.99867 C=0.00133
gnomAD - Exomes African Sub 16250 T=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 T=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6134 T=0.9998 C=0.0002
gnomAD - Genomes Global Study-wide 140162 T=0.999615 C=0.000385
gnomAD - Genomes European Sub 75944 T=0.99983 C=0.00017
gnomAD - Genomes African Sub 41984 T=0.99995 C=0.00005
gnomAD - Genomes American Sub 13640 T=0.99721 C=0.00279
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3130 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2146 T=0.9995 C=0.0005
ExAC Global Study-wide 121252 T=0.999852 C=0.000148
ExAC Europe Sub 73292 T=0.99992 C=0.00008
ExAC Asian Sub 25104 T=0.99996 C=0.00004
ExAC American Sub 11564 T=0.99914 C=0.00086
ExAC African Sub 10386 T=0.99990 C=0.00010
ExAC Other Sub 906 T=1.000 C=0.000
The PAGE Study Global Study-wide 78700 T=0.99971 C=0.00029
The PAGE Study AfricanAmerican Sub 32514 T=0.99997 C=0.00003
The PAGE Study Mexican Sub 10810 T=0.99981 C=0.00019
The PAGE Study Asian Sub 8318 T=1.0000 C=0.0000
The PAGE Study PuertoRican Sub 7918 T=1.0000 C=0.0000
The PAGE Study NativeHawaiian Sub 4534 T=1.0000 C=0.0000
The PAGE Study Cuban Sub 4230 T=0.9995 C=0.0005
The PAGE Study Dominican Sub 3828 T=1.0000 C=0.0000
The PAGE Study CentralAmerican Sub 2450 T=0.9947 C=0.0053
The PAGE Study SouthAmerican Sub 1982 T=0.9980 C=0.0020
The PAGE Study NativeAmerican Sub 1260 T=0.9992 C=0.0008
The PAGE Study SouthAsian Sub 856 T=1.000 C=0.000
GO Exome Sequencing Project Global Study-wide 13006 T=0.99985 C=0.00015
GO Exome Sequencing Project European American Sub 8600 T=0.9999 C=0.0001
GO Exome Sequencing Project African American Sub 4406 T=0.9998 C=0.0002
1000Genomes Global Study-wide 5008 T=0.9992 C=0.0008
1000Genomes African Sub 1322 T=1.0000 C=0.0000
1000Genomes East Asian Sub 1008 T=0.9990 C=0.0010
1000Genomes Europe Sub 1006 T=1.0000 C=0.0000
1000Genomes South Asian Sub 978 T=1.000 C=0.000
1000Genomes American Sub 694 T=0.996 C=0.004
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9997 C=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9997 C=0.0003
A Vietnamese Genetic Variation Database Global Study-wide 616 T=0.995 C=0.005

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= C
GRCh38.p13 chr 8 NC_000008.11:g.42731835= NC_000008.11:g.42731835T>C
GRCh37.p13 chr 8 NC_000008.10:g.42586978= NC_000008.10:g.42586978T>C
CHRNB3 transcript variant 1 NM_000749.5:c.528= NM_000749.5:c.528T>C
CHRNB3 transcript variant 1 NM_000749.4:c.528= NM_000749.4:c.528T>C
CHRNB3 transcript NM_000749.3:c.528= NM_000749.3:c.528T>C
CHRNB3 transcript variant 2 NM_001347717.2:c.306= NM_001347717.2:c.306T>C
CHRNB3 transcript variant 2 NM_001347717.1:c.306= NM_001347717.1:c.306T>C
CHRNB3 transcript variant X1 XM_011544390.2:c.141= XM_011544390.2:c.141T>C
neuronal acetylcholine receptor subunit beta-3 isoform 1 precursor NP_000740.1:p.Tyr176= NP_000740.1:p.Tyr176=
neuronal acetylcholine receptor subunit beta-3 isoform 2 NP_001334646.1:p.Tyr102= NP_001334646.1:p.Tyr102=
neuronal acetylcholine receptor subunit beta-3 isoform X1 XP_011542692.1:p.Tyr47= XP_011542692.1:p.Tyr47=

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

21 SubSNP, 11 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss161151694 Dec 01, 2009 (131)
2 NHLBI-ESP ss342258038 May 09, 2011 (134)
3 1000GENOMES ss460376501 Sep 17, 2011 (135)
4 1000GENOMES ss490964542 May 04, 2012 (137)
5 1000GENOMES ss1329585310 Aug 21, 2014 (142)
6 EVA_UK10K_ALSPAC ss1620494787 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1663488820 Apr 01, 2015 (144)
8 EVA_EXAC ss1689184654 Apr 01, 2015 (144)
9 ILLUMINA ss1959106922 Feb 12, 2016 (147)
10 TOPMED ss2472354656 Dec 20, 2016 (150)
11 GNOMAD ss2737136452 Nov 08, 2017 (151)
12 GNOMAD ss2748042477 Nov 08, 2017 (151)
13 GNOMAD ss2865988882 Nov 08, 2017 (151)
14 ILLUMINA ss3022841307 Nov 08, 2017 (151)
15 TOPMED ss3560232363 Nov 08, 2017 (151)
16 ILLUMINA ss3653382983 Oct 12, 2018 (152)
17 ILLUMINA ss3726534004 Jul 13, 2019 (153)
18 PAGE_CC ss3771439498 Jul 13, 2019 (153)
19 KHV_HUMAN_GENOMES ss3811083281 Jul 13, 2019 (153)
20 EVA ss3824367522 Apr 26, 2020 (154)
21 TOPMED ss4783798439 Apr 26, 2021 (155)
22 1000Genomes NC_000008.10 - 42586978 Oct 12, 2018 (152)
23 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 42586978 Oct 12, 2018 (152)
24 ExAC NC_000008.10 - 42586978 Oct 12, 2018 (152)
25 gnomAD - Genomes NC_000008.11 - 42731835 Apr 26, 2021 (155)
26 gnomAD - Exomes NC_000008.10 - 42586978 Jul 13, 2019 (153)
27 GO Exome Sequencing Project NC_000008.10 - 42586978 Oct 12, 2018 (152)
28 The PAGE Study NC_000008.11 - 42731835 Jul 13, 2019 (153)
29 TopMed NC_000008.11 - 42731835 Apr 26, 2021 (155)
30 UK 10K study - Twins NC_000008.10 - 42586978 Oct 12, 2018 (152)
31 A Vietnamese Genetic Variation Database NC_000008.10 - 42586978 Jul 13, 2019 (153)
32 ALFA NC_000008.11 - 42731835 Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
41702281, 23192461, 9283736, 6307968, 825369, 23192461, 5166129, ss342258038, ss460376501, ss490964542, ss1329585310, ss1620494787, ss1663488820, ss1689184654, ss1959106922, ss2472354656, ss2737136452, ss2748042477, ss2865988882, ss3022841307, ss3653382983, ss3824367522 NC_000008.10:42586977:T:C NC_000008.11:42731834:T:C (self)
294044392, 660967, 388195109, 621175999, 4316597389, ss3560232363, ss3726534004, ss3771439498, ss3811083281, ss4783798439 NC_000008.11:42731834:T:C NC_000008.11:42731834:T:C (self)
ss161151694 NT_167187.1:30445123:T:C NC_000008.11:42731834:T:C (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs76467184


The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post596+ae089ad